Short-rib thoracic dysplasia 8 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: SRPS6
Number of Symptoms 29
OrphanetNr:
OMIM Id: 615503
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000062) Ambiguous genitalia 74 / 7739
2
(HPO:0000256) Macrocephaly 298 / 7739
3
(HPO:0005280) Depressed nasal bridge 381 / 7739
4
(HPO:0010454) Acetabular spurs 4 / 7739
5
(HPO:0001159) Syndactyly 140 / 7739
6
(HPO:0000774) Narrow chest 167 / 7739
7
(HPO:0001156) Brachydactyly syndrome 180 / 7739
8
(HPO:0000773) Short ribs 70 / 7739
9
(HPO:0100259) Postaxial polydactyly 85 / 7739
10
(HPO:0002980) Femoral bowing 36 / 7739
11
(HPO:0003026) Short long bone 51 / 7739
12
(HPO:0006644) Thoracic dysplasia 12 / 7739
13
(HPO:0100258) Preaxial polydactyly 39 / 7739
14
(HPO:0001561) Polyhydramnios 191 / 7739
15
(HPO:0100732) Pancreatic fibrosis 12 / 7739
16
(HPO:0001508) Failure to thrive 454 / 7739
17
(HPO:0004322) Short stature 1232 / 7739
18
(HPO:0001629) Ventricular septal defect 316 / 7739
19
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
20
(OMIM) Prominent bile duct plates 1 / 7739
21
(OMIM) Short long bones on prenatal ultrasound 1 / 7739
22
(OMIM) Dilation of renal tubules, mild 1 / 7739
23
(MedDRA:10072883) Brachydactyly 153 / 7739
24
(OMIM) Handlebar clavicles 3 / 7739
25
(OMIM) Hypoplastic trabecular bone 1 / 7739
26
(OMIM) Conical epiphyses 1 / 7739
27
(OMIM) Enlarged liver with ductal plate malformation 1 / 7739
28
(OMIM) Focal cystic changes 1 / 7739
29
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

WDR60;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM McInerney-Leo et al. (2013) studied a nonconsanguineous Australian family of British and Maori descent in which the healthy parents had 2 offspring with short-rib polydactyly syndrome, clinically classified as SRPS type III (see 263510). The first child presented ...
Molecular genetics OMIM In the deceased proband from a nonconsanguineous Australian family of British and Maori descent segregating autosomal recessive short rib-polydactyly syndrome, McInerney-Leo et al. (2013) performed whole-exome sequencing and identified compound heterozygosity for a nonsense (Q631X; 615462.0001) and a ...